Chromosome disorder thread

[Bluebirdonmyshoulder]

I'm told there's no dedicated chromosome disorder thread so I thought I'd start one!

I know some people (myself included) won't want to state the specific disorder that our DC is affected by as some are so rare it would 'out' us, but I think a lot of the effects of chromosome disorders are quite similar.

My DD (3.5 months) has a very rare disorder. She seems to have quite a few of the more minor physical effects and none of the serious ones thank goodness. As for the learning difficulties, time will tell.

We are in the process of joining Unique etc and have had her exact karotype matched.

So come and chat about your DC, how you felt when they were diagnosed, what services you've found useful, any particular groups etc.

[Smurf1]

This week is the first ever international Rare Chromosome Awareness Week 2-8 June.

We want to tell the world what rare chromosome disorders are, how they affect our families and how Unique can help.

Throughout the week we will be sharing messages by email, press, Facebook and twitter, through work places, schools and hospitals.

Lots of families are also sharing pictures of their children via Facebook, Twitter, Flickr etc. to celebrate Awareness Week.

The aim is for greater understanding and support for families affected by the many challenges rare chromosome disorders bring. We also want to create a better understanding of the great love and joy we feel for our children and adults with rare chromosome disorders and the strength we gain from other parents and families like ours.

If you would like to support the work of Unique in helping families through diagnosis, linking them to similar families, publishing our guides to individual chromosome disorders and raising awareness through events like this week, please consider making a donation. Please visit www.rarechromo.org/html/DonateNow.asp to donate online. You can donate in various currencies, including Pounds Sterling, US Dollars and Euros.

If you are in the UK, you can now also donate by text message direct from your mobile.
Just text UNIQ11 plus the amount you wish to donate up to a maximum of £10 to 70070. So, to donate £10 you need to type UNIQ11 £10 and text it to 70070. Remember to leave a space between UNIQ11 and £10.

Best wishes from all of us at Unique.

[hazeyjane]

Just giving this a bump.

We saw the geneticist, she was fantastic, really easy to talk to and seemed engaged and interested in ds.

She wants to test ds for a couple of other syndromes, alongside the Kleefstra study. She wants to look at the X chromosome, and syndromes to do with macrocephaly. She is also going to put him forward for the DDD study. Fortunately they can use samples they already have rather than taking any more blood.

Hope everyone is doing well.

[hazeyjane]

Quickly popping in to say hello.

Good to read your post, can'tbelieve, I remember your posts earlier when you had just received a diagnosis, it is good to hear how your ds is getting on, and hear you sounding so positive.

We are going through a good phase with ds - after a bloody awful and prolonged bout of pneumonia and worries over oxygen levels. His chest problems are under investigation at John Radcliffe so hopefully we will get some answers there.

He has started preschool with a full time 1-1 (and me there too) and is getting on ok, albeit with teeny tiny steps. He has also just started with a GoTalk communication device, which he loves, hopefully it will be the start of him learning how to use a communication app as he gets older, as he has made no progress at all with verbal speech.

We are seeing his geneticist on Friday, it is a new one, so should be interesting, although we have had no word back from the Kleefstra syndrome study that he is part of.

Hope everyone has a good day

[Bryzoan]

Thanks beemom. I have found a couple of great facebook grps. That is good advice too - I am rather inclined to face most things as a sprint so will remember that one.

[BeeMom]

I have a friend in the US who has a son with Kabuki. I understand there is a very good support group online for families who are dealing with a KS diagnosis.

I hope some of my writing is helpful for you. I don't write on that blog a lot now - life kind of got in the way somehow. In fact - the most recent post is nearly a year old. I really should update it, but where to even begin?

The best (but quite cliche) advice I was ever given and pass on often, is remember that this journey is a marathon. If you approach it as a sprint, you'll exhaust yourself. You are in it for the long haul, and when you think you can't do it, give yourself permission to crack a bit, then get out the glue, mend the crack, and keep on going.

[Bryzoan]

Hello - thought I would jump in and join you all if that is ok.

We received DD1s official diagnosis of Kabuki Syndrome this week - we were expecting it but it was still somehow a shock. She is doing really well but has up and down days... BeeMom I'm off to read your blog posts, even the titles resonate.

We're just starting statementing now too can'tbelieve - dd is 2.9. We're looking round schools at the moment. I am on maternity leave at the moment with our 6 month old ds (who seems very healthy) but have decided to leave work rather than go back - I just can't see any other way of keeping up with all dd's appointments!

[cantbelieve]

Hi there, I haven't been on here for months and I pop in and here's this thread :-)

My little dude is now 18 months and we are right in the middle of statementing so he can start special school nursery next jan when he is 2. The reports are crap to read (profound and multiple learning difficulties- ouch) but Ive gone beyond letting it get to me, he is a healthy happy little dude and on his own journey and if its different to everyone else's we will deal with it, and anyone that can't deal with it can get stuffed to put it politely !!!!

Dont get me wrong we still have good and bad days, heck I do with my older 2 but we are getting there.

My biggest stress is work currently as they are being pigs not letting me take unpaid leave over school holidays and trying to find childcare for a son like mine just doesn't seem to exist so how the hell do we cope for 6 weeks every summer ????

Hope everyone and their little uns are doing well xxx

[BeeMom]

blue - I have to be honest with you... it doesn't. It will recede into the shadows, sometimes for a very long time, but with life events, or transitions, or just for the hell of it, it'll come flying back.

We are struggling with a few of the "harsh" reminders right now, I try to look beyond it and feel confident that we will come through - after all, we have before - but for the "now", it stinks.

Some time ago, I wrote a couple of blog posts around these ideas - dealing with the grief and reality , trying to wrap your head around change and optimism/pessimism and realism. I know this is a lot of reading (and don't expect you to read it) but I thought I would share the perspective of someone who has been doing this a little longer.

In the meantime, here's some . I am sure it is 5 o'clock somewhere...

[Bluebirdonmyshoulder]

Just bumping this to see how everyone is doing.

Bluechick is nearly 1 and doing well in some ways and less well in others. We now receive DLA and carers allowance which helps.

I have mainly good days now but still get a fair sprinkling of days where I can't believe what has happened and want to rage at the world. When does this feeling go away?

[StillSlightlyCrumpled]

county yes, sorry I do mean 22q11 .
He was diagnosed when he was four, it was a relief to know what was wrong as he was tested for so many life limiting illnesses that this seemed a bit less scary.

Not bad here at the moment although winter & DS2 are not a good mix, though apart from scheduled surgery, he has avoided any hospital admissions .

[goshua]

Confused my Grand children were diagnosed (pre adoption) foetal alcohol syndrome were classic. Were re diagnosed chromosome disorder's for adoption, will both need lifetime support.

[countydurhamlass]

stillslightlycrumpled, hi there. i am presuming you meant 22q11?. my son is 9 now also and after years of various hospital appts we have managed to narrow it down to a handful of check ups each year! however, on the school side of things he is slowly falling further and further behind the other children in his class (currently mainstream at the mo)

[StillSlightlyCrumpled]

Just coming on to say hi & special hello to countydurhamlass. My ds2 has 22q1 deletion too. He is 9 now & doing fairly well.

[TheNinjaGooseIsOnAMission]

oh no, take some unflattering photos, it's the least you can do

[auntevil]

As you know Ninja - the chance of anyone that drives going to the appointment is zero - so it will be taxi to the front door.
The rest of us will be going though - me and 3 DS. The appointment starts after school.
I'm going to get the info all ready as per BeeMom - and try to remember pregnancy history. Amazing how vague each pregnancy is. I remember little bits, but forget which happened with which birth
Bribes will be at the ready too!

[TheNinjaGooseIsOnAMission]

auntevil, that is fab news leave plenty of time to get there, especially if driving, parking is a nightmare, plus finding the right place to be ain't easy! Also pregnancy history in detail as well as the family history, I couldn't give much family history due to no one being available to ask. She wanted a blood sample from dd3 at the appointment so maybe be prepared for that, have bribes ready. Do chase her up if she runs/promises tests/referrals. And good luck, let us know how you get on

[cantbelieve]

We didnt see genetics until after we got the results of the microarray stating ds has fox g1 syndrome, so our appointment was a bit pointless, he took photos of ds and got us to give blood so me and dh can be tested for any abnormalities, but we have no history on either side, so he said its most likely a de novo ie new mutation, and its just one of those things that happen, nothing we did or didnt do caused it and that even though ds has a label he is still unique as all kids within any syndrome vary in symptoms. Good luck.

[auntevil]

Weirdly, I'm the adopted one in this family - so a similar situation of not having the full picture.
DH's side is like getting blood out of a stone. I have tried to make gently probing questions in the past. FIL gives the same answer about all relatives who have died when I ask what was the cause - answer; "lack of breath". Helpful - not.
MIL is slightly better. I have explained what we are doing and why it is important. Will have a nice long chat with her this weekend!

[BeeMom]

Take a day and email ALL members of your and your partner's families and ask them about all the medical issues (not accidents/contagious illnesses) that they can remember in themselves and other family members. Take all that information and put it into a table, print it and bring it with you.

The one I assembled listed:
Full Name at birth (a LOT can be discovered by that - for example, my mother's maiden name was a big clue - one of the conditions in my family, malignant hyperthermia, is quite rare, but there is an enclave of people from the eastern part of our province with her surname where the incidence is much MUCH higher
Date of birth (approximate, if that is all you have)
Date of death if appropriate (or age at death, if that is all you have)
Any medical conditions (common like cancer/heart disease too, you might find things that surprise you in their responses)

Start with your DC's Siblings, if they have any, then you and your siblings, your parents and their siblings, and your grandparents and their siblings. Do the same for your partner. Then, at the end, list any odd things that don't fit in that category (for example, nieces and nephews, or cousins... so on). If you get everyone to contribute, your work will be more assembling the information. Bring copies of the responses, too, so you can refer to them if the doc asks.

Bring photos of your dc from birth and every few months until the present. This can show more subtle facial features that might be less evident as they grow, covered with hair, or perhaps your dc is less than cooperative and will not allow the geneticist to look closely.

I also brought a chronology along... with developmental milestones and medical issues both identified on the same document.

Now... none of this is mandatory. For my DH's side of information, at Bee's first genetics appointment I was able to only give what we knew of him - he is adopted. I spoke to his mum about his early years, and asked him what he could remember, but we really only had 1/2 of a picture. Sometimes geneticists have nothing to start with, and have to make educated guesses.

All the best - remember, nothing in genetics moves quickly, even if the geneticist is almost positive they know what the issue is, they will not diagnose until there is genetic proof. This is frustrating... BUT... there is a reason behind it. Once the geneticist says it is X, all other consultants take it as law, and no one will look further. In our case, Bee has been diagnosed with several different things, and for others, because the specific genetic markers cannot be located, she remains undiagnosed. Bee's geneticist is positive that there is a genetic link to all her challenges, but it has not been identified yet. Until then, she remains without an umbrella diagnosis.

[auntevil]

Just got our 1st genetics appt through - finally and it's next week. I think they must have got bored of me keep asking where they were on the list
What are the must have information to take with me?
Any advice welcome as well.
I had some from Ninja Goose as it will be the same consultant. She said that the Dr looks very intently at your features while she talks/listens but doesn't look at you in the conventional way.

[hazeyjane]

Hoping everyone is ok, be good to hear how peoples dcs are getting on.

We have had a hiatus from nursery and therapy and appointments, with christmas and various illnesses. But we have opthamology, cardiology, a paed appointment and a meeting about ds starting preschool coming up, so the year starts back with a vengeance!

[Bluebirdonmyshoulder]

Hi everyone. Thanks for resurrecting the thread, I've been hiding away recently.

Just about to go to bed but will check in tomorrow.

[2old2beamum]

Hi countydurhamlass My DD 7 has translocation/deletion 22q11 (Emanuel Syndrome) She has repaired cleft palate,auto immune probs rectovaginal fistula. Your LO seems brighter she has no speech but does understand a fair bit I am certain she has autistic traits. She is under GOSH where they are talking about doing research.

Sleep well

[countydurhamlass]

hi, i have just seen this thread.

my ds has a deletion, 22q11. there are over 180 anomolies to it, everyone is different and no one has all of them. ds is very lucky seems to be mildly affected. we have had lots of hospital appts over the years however and 2 cleft palate ops. We found out due to genetics testing done when he had his first op as the hospital were doing research into cleft palates and links to medical conditions etc. his main issues are/have been his immune system, cleft palate (and associated problems), learning difficulties. he has to have routine and know everything about what is going to happen that day. he repeats the same questions over and over again, has slight OCD and autistic traits and there is a risk of him having mental health issues when older.

thought i would say hi

[2old2beamum]

Hi all
We are still here things are on the up. Since DD4's colostomy dx of immune deficiency now having weekly infusions of gammaglobulin. Now I can do them at home so no probs
Hope you are all well and a happy new year to you all. Keep your chins up!